ClinVar Miner

Submissions for variant NM_001195794.1(CLRN1):c.9C>A (p.Ser3Arg) (rs187218889)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726773 SCV000702941 uncertain significance not provided 2016-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000726773 SCV000969870 likely benign not provided 2018-06-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041439 SCV000065134 benign not specified 2016-02-18 criteria provided, single submitter clinical testing p.Ser3Arg in exon 1 of CLRN1: This variant is not expected to have clinical sign ificance because it has been identified in 0.8% (73/8624) of East Asian chromoso mes Exome Aggregation Consortium (ExAC,; dbSNP s1 87218889).

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